OBM Genetics

(ISSN 2577-5790)

OBM Genetics is an international Open Access journal published quarterly online by LIDSEN Publishing Inc. It accepts papers addressing basic and medical aspects of genetics and epigenetics and also ethical, legal and social issues. Coverage includes clinical, developmental, diagnostic, evolutionary, genomic, mitochondrial, molecular, oncological, population and reproductive aspects. It publishes research articles, reviews, communications and technical notes, etc. There is no restriction on the length of the papers and we encourage scientists to publish their results in as much detail as possible.

Archiving: full-text archived in CLOCKSS.

Publication Speed (median values for papers published in 2022): Submission to First Decision: 4 weeks; Submission to Acceptance: 12 weeks; Acceptance to Publication: 13 days (1-2 days of FREE language polishing included)

Current Issue: 2023  Archive: 2022 2021 2020 2019 2018 2017

Special Issue

Mosaicism and Chimerism

Submission Deadline: December 31, 2023 (Open) Submit Now

Guest Editors

Ying S. Zou, MD, PhD, FACMG

Director of Cancer Genetics Laboratory, Johns Hopkins Hospital, Co-Director of Cytogenomics Laboratory, Associate Director of Molecular Diagnostic Laboratory, and Associate Professor, Department of Genetic Medicine and Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

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Research Interests: genomics; molecular diagnostics; cytogenomics; cancer genetics; chromosomal structure abnormalities; telomere biology and ageing

Jaclyn Murry, PhD, Assistant Professor

Co-Director, Cytogenomics Laboratory, Department of Pathology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.

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Research interests: cytogenetics; cytogenomics; newborn screening, congenital disorders

About the topic:

Mosaicism has been well-studied in the context of the consequences of early development, especially in its role in understanding how genetic variations can lead to human disease, whether it is gross chromosomal aberrations (numerical or structural) or point mutations, etc. An example is mosaic Down syndrome, but other commonly encountered aneuploidies may be compatible with life at lower levels. Another consideration is whether a structurally abnormal chromosome could lead to mitotic nondisjunction/anaphase lag (loss) and result in multiple lines in a single individual. In the prenatal community, the concept of confined placental mosaicism is well-known. With the use of non-invasive prenatal screening, could a placental sampling reveal the possibility of pseudopartial moles, a rare phenomenon of placental mesenchymal dysplasia, leading to intrauterine growth restriction and an otherwise healthy fetus? There is another phenomenon, mixoploidy, whereby the presence of one genomic aberration may be permissive of another chromosomal aberration (such as triploidy and trisomy or dual trisomy). Other forms of genetic variation could also be subject to mosaicism: copy number changes, and even epigenetic changes. Even so, there are some individuals whose cryptic mosaicism may not be recognized and may escape clinical ascertainment.
Similarly, natural chimerism has been studied and thought to be rare. However, this association is dependent on sex-mismatch and may be missed in the context of female-female pairs by classic cytogenetic methods. In vitro fertilization (IVF) conception and multiple embryo transfer has been suggested to promote cell absorption events; twin to twin transfusion is another way in which this scenario could occur. The advent and availability of more sensitive molecular techniques may allow for more subtle and unusual, even unknown, twin pairs to be detected, which may have implications for treatment, identity testing, and even forensic testing.
Somatic mosaicism has been studied in the context of cancers, with some specific gross chromosomal numerical aberrations (aneuploidies) being associated with age, rather than suggestive of underlying disease. More recently, a phenomenon of clonal aberrations at the mutation level in described older individuals in the hematopoietic compartment, and must be correlated with morphological and cellular characteristics to determine its significance, if any.


aneuploidy; chimerism; chromosomal aberration; confined placental mosaicism; epigenetic changes; genetic variation; in vitro fertilization conception; mitotic nondisjunction/anaphase lag; mixoploidy; mosaic Down syndrome; mutation; numerical chromosome aberration; pseudopartial moles; structural chromosome aberration; triploid; trisomy; twin to twin transfusion


Open Access Case Report

Live-Born Double Aneuploidy at the Johns Hopkins Cytogenomics Laboratory: Case Report and Review of the Literature

Received: 30 June 2022;  Published: 07 November 2022;  doi: 10.21926/obm.genet.2204168


Double aneuploidy is the co-occurrence of aneuploidy of two different chromosomes within the same individual. Genomic imbalance associated with two aneuploidies in humans is associated with early lethality, and observation in live-born humans is rare. In isolation, trisomy of chromosomes 13, 18, 21, X, and Y may be better tolerated, whereas [...]
Open Access Review

Trisomy 14 Mosaicism Including Concomitant Uniparental Disomy: Population Frequency, Cytogenetic Profile, Sex Ratio, Maternal Age and Obstetric History

Received: 02 May 2022;  Published: 05 September 2022;  doi: 10.21926/obm.genet.2203162


Mosaicism for trisomy of chromosome 14 (T14) is a very rare chromosomal disease in liveborn patients. Since the 1970s, when the first patients with mosaicism for T14 were reported, a number of studies on the clinical manifestations of this abnormality have been published. No information on epidemiological parameters was known except for the [...]
Open Access Review

46,XX/46,XY Chimerism & Human Sexual Development

Received: 23 April 2022;  Published: 15 June 2022;  doi: 10.21926/obm.genet.2202156


The term chimera refers to an organism with cell lines from two or more distinct zygotes. Human chimerism may occur naturally or artificially. Although rare, advancements in genetics and genomics have resulted in the identification of additional natural human chimeras. Three forms of naturally occurring chimerism have been documented in humans [...]